Alison F. Colley
Waratah, NSW, Australia
Last Updated: 09/26/2026
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Found 21 publications
CCDC22 mutations that impair COMMD binding cause attenuated 3C/Ritscher-Schinzel syndrome.
Journal: BMC medical genomics
Published: September 20, 2024
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis.
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis.
Journal: European journal of human genetics : EJHG
Published: October 08, 2021
Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies.
Journal: Neurology
Published: September 08, 2020
Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission").
Journal: European journal of human genetics : EJHG
Published: February 13, 2020
Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.
Journal: Journal of medical genetics
Published: February 13, 2020
Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications.
Journal: Journal of medical genetics
Published: January 17, 2019
User Acceptability of Whole Exome Reproductive Carrier Testing for Consanguineous Couples in Australia.
Journal: Journal of genetic counseling
Published: May 21, 2018
Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome.
Journal: Clinical epigenetics
Published: April 19, 2018
Deep Brain Stimulation as Management of Generalized Dystonia in the 18p Deletion Syndrome.
Journal: Movement disorders clinical practice
Published: April 05, 2018
Beyond the panel: preconception screening in consanguineous couples using the TruSight One "clinical exome".
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 10, 2018
Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy.
Journal: Journal of the American College of Cardiology
Published: December 20, 2017
Atypical Skin Manifestations in FGFR2-Related Craniosynostosis Syndromes Broaden the Phenotypic Spectrum.
Journal: Molecular syndromology
Published: November 09, 2017
Last Updated: 09/26/2026